Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities.
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PMID:Bilateral optic nerve hypoplasia. 692 92

Hypothalamic hamartoma is a rare tumor with onset of symptoms in infancy or early childhood. Clinical presentation includes precocious puberty, laughing spells, and seizures. Computed tomography of two cases of hypothalamic hamartomas revealed a mass lesion in the suprasellar--interpeduncular cisterns (with the density of) the surrounding normal brain. The mass was not enhanced by injection of contrast material.
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PMID:Hypothalamic hamartoma. 726 91

Gelastic (laughing) seizures are a rare phenomenon with fewer than 150 cases previously reported. These seizures have been reported to have a benign course in children. This article reviews the small subgroup of seven patients in whom such seizures were associated with precocious puberty and adds one additional case. When gelastic seizures are associated with precocious puberty, the patients often have mental retardation.
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PMID:Gelastic (laughing) seizures and precocious puberty. 728 61

Laughing seizures have been described in association with hypothalamic hamartomas and precocious puberty. Laughing seizures due to a neoplasm arising from the floor of the left lateral ventricle extending down towards the hypothalamus in a child with tuberous sclerosis is reported. This combination has not been reported before and emphasises the importance of imaging to diagnose such midline lesions in children with paroxysmal laughing.
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PMID:Laughing seizures due to a midline intraventricular neoplasm in tuberous sclerosis. 761 16

We report the case of a 9-year-old girl with multiple problems due to hypothalamic dysfunction of obscure origin: apnoeic spells, behavioural problems, developmental delay, hypodipsia with bouts of hypernatraemia, episodes of spontaneous hypothermia, obesity, petit-mal seizures, non-progressive precocious puberty, absence of respiratory response to CO2 and probably insensitivity of hyposensitivity to pain. She also had hyperprolactinaemia and decreased human growth hormone secretion. Hypothyroidism of central origin and hyposecretion of cortisol were also present. Multiple brain CT-scans failed to reveal any tumour or other anatomical abnormality. Her clinical course was improved initially by treatment with clomipramine, but she died suddenly, and the autopsy failed to disclose any anatomical lesion. We compare this case with three similar previously reported cases.
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PMID:Hypothalamic dysfunction in a child: a distinct syndrome? Report of a case and review of the literature. 768 46

We studied a 6-year-old girl who presented with inappropriate and uncontrollable laughing episodes since age 3. Physical examination revealed a precocious puberty. The luteinizing hormone-releasing hormone (LH-RH) stimulation test showed an increased level of follicle-stimulating hormone (FSH). The interictal electroencephalogram (EEG) was normal. Several laughing fits were documented during video/EEG monitoring. During laughing, the ictal EEG showed a diffuse suppression of background rhythm, prominent over the left mesial temporal region. A mass lesion about 2 x 2 cm in size was found over the suprasellar cistern with a broad base attached to the hypothalamus, which was isodense on a computed tomography (CT) scan, isointense to gray matter on T1-weighted magnetic resonance (MR) imaging and hyperintense on T2-weighted MR imaging. The findings were suggestive of a hypothalamic hamartoma. A variety of anticonvulsants had been used with little or no response to the frequency or duration of the laughing seizures.
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PMID:Hypothalamic hamartoma and gelastic epilepsy: a case report. 771

A 6.5-year-old boy developed seizures at age 2.8 years consisting of episodes of unconsciousness and laughing attacks. By age 6 years, multiple seizure types, including generalized tonic-clonic (GTC), complex partial (CPS) and akinetic seizures, and drop attacks were occurring several times daily. EEG showed multifocal epileptic discharges. Antiepileptic drugs (AEDs) did not control the seizures. With progression of the epilepsy, cognitive deterioration developed. There were no manifestations of precocious puberty. Neuroimaging disclosed a suprasellar mass in continuity with the hypothalamus, and a diagnosis of hypothalamic hamartoma was made. After surgical resection of the hamartoma, the seizures were completely alleviated, and the epileptic EEG discharges disappeared. Improvement of mental function was also noted.
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PMID:Surgical treatment of intractable seizures due to hypothalamic hamartoma. 802 96

This study presents six patients with hypothalamic hamartomas diagnosed on the basis of magnetic resonance imaging. Histological confirmation was performed in three patients who underwent surgery. Immunohistological assays were used to determine the neurosecretory pattern. Four patients presented with epilepsy, including gelastic seizures. Other symptoms included behavioral abnormalities in four patients and precocious puberty and visual impairment in two patients. One patient presented associated developmental defects. Good results without morbidity were achieved with surgical resectioning in two patients with large hamartomas associated with behavioral abnormalities and gelastic epilepsy that was unresponsive to conventional medical treatment and in one patient with visual impairment. We propose a classification of the hypothalamic hamartomas based on topographical and clinical data obtained from 36 selected cases in the literature and six of our own cases. This classification should help to classify the various treatment methods and the surgical risks into four subgroups (Types la, lb, lla, and llb). We conclude that the surgical approach is a realistic alternative in certain cases, including large and broad-based Type llb hamartomas associated with gelastic epilepsy and behavioral disorders.
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PMID:Hypothalamic hamartomas: with special reference to gelastic epilepsy and surgery. 808 5

A child is described who has skeletal malformations, gelastic epilepsy, precocious puberty and a hypothalamic hamartoma. The skeletal abnormalities were detected at birth, she developed gelastic epilepsy at the age of 3 years 5 months and precocious puberty at 3 years 8 months. A hypothalamic hamartoma was found on MRI. The precocious puberty has been successfully medically managed, though her seizures are difficult to control. The combination of all four features has not been described previously.
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PMID:Hypothalamic hamartoma with skeletal malformations, gelastic epilepsy and precocious puberty. 813 27

We present a patient with gelastic seizures, precocious puberty and a hypothalamic hamartoma. The diagnostic method of choice for hypothalamic hamartoma is new generation MRI. The characteristic MRI images along with lack of growth during the course of disease indicates a diagnosis of hamartoma firmly with no need for pathological studies. Although the physical nature of gelastic seizures in this syndrome is a subject of dispute, SPECT findings point to activity at a distance from nerve routes connecting the hypothalamus to the cortical regions (the temporal region in this case). Prognosis improves if the various components of the syndrome are treated early and when dysgenesis is less extensive.
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PMID:[Gelastic seizures, precocious puberty and hypothalamic hamartomas. A case report and the contributions of Single Photon Emission Computed Tomography (SPECT)]. 820 50


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